Early Screening for 22q.11.2 Deletion Syndrome
September 27, 2016
Insights into the Genetic Condition.
It’s called 22q11.2 deletion syndrome also known as DiGeorge syndrome. Symptoms include many types of heart defects and palatal differences, with nearly a third of those affected with 22q having kidney problems as well. Many newborns diagnosed with 22q are saddled with immune system problems leading to trouble with infections or vaccines and more. The Balancing Act welcomes Dr. Kimberly Martin, whose special insights into the genetic condition of 22q helps to explain the advantages early screening can bring. Also joining us in the segment is Sheila Kambin, mother of a child with 22q. She shares her challenges and victories of dealing with this diagnosis. We explore why early diagnosis of 22q and prenatal screening is so vital in helping cope with the challenges life throws us.
The National Organization for Rare Disorders (NORD®) is celebrating Rare Disease Day 2021 with The Balancing Act.
Travis Flores is a 29-year-old cystic fibrosis survivor and a recipient of a very rare third double-lung transplant in May 2020.
The Balancing Act has partnered with the National Organization for Rare Disorders (NORD) and WEGO Health to shine a light on rare diseases and the impact they have on patients.